SwePub
Sök i LIBRIS databas

  Utökad sökning

WFRF:(Aschim EL)
 

Sökning: WFRF:(Aschim EL) > (2004) > Linkage between cry...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004180naa a2200409 4500
001oai:lup.lub.lu.se:41e42036-07be-4089-bb60-f453d6243114
003SwePub
008160401s2004 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:1955046
0247 a https://lup.lub.lu.se/record/8983472 URI
0247 a https://doi.org/10.1210/jc.2004-02932 DOI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:19550462 URI
040 a (SwePub)lud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Aschim, EL4 aut
2451 0a Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene
264 1b The Endocrine Society,c 2004
520 a Although sufficient androgen receptor (AR) function is crucial for normal male sexual differentiation, single-point mutations in the AR gene are infrequent in the two most common male congenital malformations, hypospadias and cryptorchidism. Because polymorphic CAG and GGN segments regulate AR function, we investigated whether there was any association between these polymorphisms and mentioned malformations. Genotyping was performed by direct sequencing of DNA from patients diagnosed with hypospadias (n = 51) and cryptorchidism ( n = 23) and controls ( n = 210). The subjects with hypospadias were divided into subgroups of glanular, penile, and penoscrotal hypospadias. Median GGN lengths were significantly higher ( 24 vs. 23) among both subjects with cryptorchidism, compared with controls ( P = 0.001), and those with penile hypospadias, compared with either controls ( P = 0.003) or glanular and penoscrotal hypospadias combined ( P = 0.018). The frequency of cases with GGN 24 or more vs. GGN = 23, differed significantly among those with cryptorchidism (65/35%), compared with controls (31/54%) ( P = 0.012), and among subjects with penile hypospadias (69/31%), compared with either controls ( P = 0.035) or glanular or penoscrotal hypospadias combined (32/55%) ( P = 0.056). There were no significant differences in CAG lengths between the cases and controls. Our findings indicate an association between GGN length and the risk of cryptorchidism and penile hypospadias, both conditions considered consequences of low androgenicity.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reproduktionsmedicin och gynekologi0 (SwePub)302202 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Obstetrics, Gynaecology and Reproductive Medicine0 (SwePub)302202 hsv//eng
7001 a Nordenskjold, Au Karolinska Institutet4 aut
7001 a Giwercman, Aleksanderu Lund University,Lunds universitet,Reproduktionsmedicin, Malmö,Forskargrupper vid Lunds universitet,Reproductive medicine, Malmö,Lund University Research Groups4 aut0 (Swepub:lu)kir-agi
7001 a Lundin, Kristinau Lund University,Lunds universitet,Reproduktionsmedicin, Malmö,Forskargrupper vid Lunds universitet,Reproductive medicine, Malmö,Lund University Research Groups4 aut0 (Swepub:lu)kir-klu
7001 a Ruhayel, Yasiru Lund University,Lunds universitet,Reproduktionsmedicin, Malmö,Forskargrupper vid Lunds universitet,Reproductive medicine, Malmö,Lund University Research Groups4 aut0 (Swepub:lu)kir-yru
7001 a Haugen, TB4 aut
7001 a Grotmol, T4 aut
7001 a Giwercman, Yvonneu Lund University,Lunds universitet,Reproduktionsmedicin, Malmö,Forskargrupper vid Lunds universitet,Reproductive medicine, Malmö,Lund University Research Groups4 aut0 (Swepub:lu)kir-ylu
7102 a Karolinska Institutetb Reproduktionsmedicin, Malmö4 org
7730 t Journal of Clinical Endocrinology and Metabolismd : The Endocrine Societyg 89:10, s. 5105-5109q 89:10<5105-5109x 1945-7197x 0021-972X
8564 u http://dx.doi.org/10.1210/jc.2004-0293x freey FULLTEXT
8564 u https://academic.oup.com/jcem/article-pdf/89/10/5105/10771892/jcem5105.pdf
8564 8u https://lup.lub.lu.se/record/898347
8564 8u https://doi.org/10.1210/jc.2004-0293
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:1955046

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy